Klinefelter's Syndrome

Klinefelter's Syndrome

Klinefelter's syndrome, commonly known as "KS" is a genetic disorder that is only found in males. Until recently you could not detect this disorder until after puberty, but now they can detect it before birth using amniocentesis. Amniocentesis is the use of a long needle to withdraw amniotic fluid surrounding the fetus. However many affected males go undiagnosed and untreated. KS was first discovered by H.F. Klinefelter in 1942. This disease affects about one in one 450 males that are born.

Klinefelter's syndrome is caused by an extra X chromosome, which is caused by an error in meiosis l or meiosis ll, to make a combination of XXY karyotype. Although the extra X chromosome is inactive, also known as a Barr body, it still interferes with the development of some male characteristics. The physical traits of KS are most evident during puberty, affected boys may be taller with longer limbs, they will have small, firm testes and mircopenis and may develop feminine attributes such as broad hips or female breasts and an inability to grow facial or body hair. Individuals will suffer low libido, sexual dysfunction and infertility. Along with the interference of the development of male characteristics, KS can cause learning disabilities including difficulty in reading and speech delay. (Mader 2009, p.153)

KS is most commonly diagnosed as 47, XXY karyotype however 20% have a variation with higher numbers of the X chromosomes.

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As the number of X chromosomes increase the severity of mental disabilities and malformations. The most common of these variations is the 48, XXXY karotype. (Bourke 2014). According to Sylvia Madder, author of Concepts of Biology, no matter how many X chromosomes a person has anyone with a Y chromosome is still considered to be male. (2009, p.153)

At this time no cure...